DFNB37
MCID: DFN197
MIFTS: 42

Deafness, Autosomal Recessive 37 (DFNB37)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Recessive 37

MalaCards integrated aliases for Deafness, Autosomal Recessive 37:

Name: Deafness, Autosomal Recessive 37 57 29 13 6 70
Dfnb37 57 12 72
Autosomal Recessive Nonsyndromic Deafness 37 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37 72
Congenital Neurosensory Deafness Autosomal Recessive 37 72
Deafness, Autosomal Recessive, Type 37 39
Deafness, Autosomal Recessive, 37 72
Autosomal Recessive Deafness 37 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on one report of 3 consanguineous pakistani families (last curated august 2015)
eye and vestibular findings were found in some members of one family


HPO:

31
deafness, autosomal recessive 37:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110495
OMIM® 57 607821
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1843028
UMLS 70 C1843028

Summaries for Deafness, Autosomal Recessive 37

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 37: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Recessive 37, also known as dfnb37, is related to rare genetic deafness and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 37 is MYO6 (Myosin VI), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include eye, and related phenotypes are rod-cone dystrophy and congenital stationary night blindness

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has material basis in mutation in the MYO6 gene on chromosome 6q14.

More information from OMIM: 607821 PS220290

Related Diseases for Deafness, Autosomal Recessive 37

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15 Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20 Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25 Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39 Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108 Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Deafness, Autosomal Dominant 80 Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Autosomal Dominant Nonsyndromic Deafness 78
Autosomal Dominant Nonsyndromic Deafness 79 Autosomal Recessive Nonsyndromic Deafness 116
Autosomal Dominant Nonsyndromic Deafness 74 Autosomal Dominant Nonsyndromic Deafness 75
Autosomal Dominant Nonsyndromic Deafness 76 Autosomal Dominant Nonsyndromic Deafness 77
Nonsyndromic Deafness Otof-Related Deafness
Familial Deafness

Diseases related to Deafness, Autosomal Recessive 37 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 rare genetic deafness 29.5 MYO7A MYO6 MYO3A MYO15A GIPC3
2 branchiootic syndrome 1 29.5 PTPRQ MYO7A
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.5 TRIOBP TPRN PTPRQ MYO7A MYO6 MYO3A
4 deafness, autosomal dominant 22 26.7 TRIOBP TPRN RGS19 PTPRQ MYO7A MYO6
5 deafness, autosomal recessive 3 10.3 MYO7A MYO15A
6 deafness, autosomal recessive 7 10.3 MYO7A MYO15A
7 deafness, autosomal recessive 83 10.2 MYO7A MYO15A
8 deafness, autosomal recessive 18a 10.2 MYO7A MYO15A
9 usher syndrome, type iid 10.2 MYO7A MYO15A
10 deafness, autosomal dominant 15 10.2 MYO7A MYO6
11 deafness, autosomal recessive 25 10.2 TRIOBP MYO15A
12 deafness, autosomal recessive 13 10.2 MYO3A GIPC3
13 deafness, autosomal recessive 1b 10.2 TPRN MYO15A
14 deafness, autosomal dominant 6 10.2 MYO7A MYO15A
15 deafness, autosomal dominant 7 10.2 MYO6 MYO1A
16 deafness, autosomal recessive 71 10.2 MYO7A MYO6
17 deafness, x-linked 3 10.2 TRIOBP TPRN
18 vestibular disease 10.1 MYO7A MYO15A
19 deafness, autosomal recessive 63 10.1 MYO7A MYO15A
20 deafness, autosomal recessive 2 10.1 MYO7A MYO3A MYO15A
21 usher syndrome, type if 10.1 MYO7A MYO15A
22 deafness, autosomal recessive 79 10.1 TPRN MYO3A MYO15A
23 deafness, autosomal dominant 11 10.1 MYO7A MYO3A MYO15A
24 nonsyndromic deafness 10.1 TRIOBP MYO7A MYO15A
25 deafness, autosomal recessive 16 10.1 PTPRQ MYO15A
26 deafness, autosomal dominant 9 10.1 MYO7A MYO6
27 autosomal recessive nonsyndromic deafness 36 10.0 TRIOBP TPRN MYO3A
28 deafness, autosomal recessive 39 10.0 TRIOBP PTPRQ
29 deafness, autosomal recessive 9 10.0 TRIOBP MYO7A MYO15A
30 deafness, autosomal recessive 28 10.0 TRIOBP TPRN MYO15A
31 deafness, autosomal recessive 24 10.0 TRIOBP TPRN MYO15A
32 myh-9 related disease 10.0 MYO7A MYH14
33 usher syndrome, type iic 10.0 MYO7A MYO15A
34 deafness, autosomal recessive 23 10.0 PTPRQ MYO7A MYO15A
35 usher syndrome type 2 9.9 PTPRQ MYO7A MYO15A
36 deafness, autosomal recessive 22 9.9 TRIOBP PTPRQ MYO15A
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
38 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 TRIOBP MYO7A MYO3A MYO15A
39 deafness, autosomal dominant 10 9.9 MYO6 MYH14
40 deafness, autosomal recessive 15 9.8 RGS19 MYO6 MYO15A GIPC3
41 deafness, autosomal recessive 12 9.8 TRIOBP PTPRQ MYO7A MYO15A
42 non-syndromic genetic deafness 9.8 TRIOBP MYO7A MYO6 MYO3A MYO15A
43 deafness, autosomal recessive 61 9.8 TRIOBP TPRN PTPRQ MYO3A
44 usher syndrome, type id 9.7 TPRN PTPRQ MYO7A MYO3A MYO15A
45 autosomal recessive nonsyndromic deafness 3 9.6 TPRN MYO7A MYO6 MYO3A MYO1A MYO15A
46 auditory system disease 9.6 TRIOBP TPRN MYO7A MYO6 MYO3A MYO15A
47 deafness, autosomal recessive 30 9.5 MYO7A MYO6 MYO3A MYO1A MYO15A MYH14
48 usher syndrome, type i 9.5 TRIOBP TPRN PTPRQ MYO7A MYO3A MYO15A
49 nonsyndromic hearing loss 9.5 TRIOBP MYO7A MYO6 MYO3A MYO15A MYH14
50 autosomal dominant non-syndromic sensorineural deafness type dfna 9.4 PTPRQ MYO7A MYO6 MYH14 GIPC3

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 37:



Diseases related to Deafness, Autosomal Recessive 37

Symptoms & Phenotypes for Deafness, Autosomal Recessive 37

Human phenotypes related to Deafness, Autosomal Recessive 37:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 occasional (7.5%) HP:0000510
2 congenital stationary night blindness 31 occasional (7.5%) HP:0007642
3 vestibular dysfunction 31 very rare (1%) HP:0001751
4 bilateral sensorineural hearing impairment 31 HP:0008619

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
hearing loss, sensorineural, bilateral (severe to profound)
vestibular dysfunction (in 2 patients)

Head And Neck Eyes:
retinitis pigmentosa (in 1 patient)
congenital stationary night blindness (in 1 patient)

Clinical features from OMIM®:

607821 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 37:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.65 DNAJC17 GIPC3 MYO15A MYO1A MYO3A MYO6
2 nervous system MP:0003631 9.28 GIPC3 MYH14 MYO15A MYO3A MYO6 MYO7A

Drugs & Therapeutics for Deafness, Autosomal Recessive 37

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 37

Genetic Tests for Deafness, Autosomal Recessive 37

Genetic tests related to Deafness, Autosomal Recessive 37:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 37 29 MYO6

Anatomical Context for Deafness, Autosomal Recessive 37

MalaCards organs/tissues related to Deafness, Autosomal Recessive 37:

40
Eye

Publications for Deafness, Autosomal Recessive 37

Articles related to Deafness, Autosomal Recessive 37:

# Title Authors PMID Year
1
Mutations of MYO6 are associated with recessive deafness, DFNB37. 61 57 6
12687499 2003
2
A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells. 61
28832620 2017
3
Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding. 61
27474411 2016
4
Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan. 61
26305302 2015
5
Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics. 61
25999546 2015
6
A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation. 61
23635807 2013
7
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss. 61
18212818 2008
8
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. 61
18348273 2008

Variations for Deafness, Autosomal Recessive 37

ClinVar genetic disease variations for Deafness, Autosomal Recessive 37:

6 (show top 50) (show all 173)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYO6 NM_004999.4(MYO6):c.36dup (p.Thr13fs) Duplication Pathogenic 8578 rs1562201376 GRCh37: 6:76527299-76527300
GRCh38: 6:75817582-75817583
2 MYO6 NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter) SNV Pathogenic 8579 rs121912558 GRCh37: 6:76623836-76623836
GRCh38: 6:75914119-75914119
3 MYO6 NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) SNV Pathogenic 164634 rs727503326 GRCh37: 6:76554623-76554623
GRCh38: 6:75844906-75844906
4 MYO6 NM_004999.4(MYO6):c.*2838T>G SNV Uncertain significance 908052 GRCh37: 6:76627567-76627567
GRCh38: 6:75917850-75917850
5 MYO6 NM_004999.4(MYO6):c.*2873T>C SNV Uncertain significance 908053 GRCh37: 6:76627602-76627602
GRCh38: 6:75917885-75917885
6 MYO6 NM_004999.4(MYO6):c.*3475G>A SNV Uncertain significance 908113 GRCh37: 6:76628204-76628204
GRCh38: 6:75918487-75918487
7 MYO6 NM_004999.4(MYO6):c.*3914T>C SNV Uncertain significance 908181 GRCh37: 6:76628643-76628643
GRCh38: 6:75918926-75918926
8 MYO6 NM_004999.4(MYO6):c.*3926T>C SNV Uncertain significance 908182 GRCh37: 6:76628655-76628655
GRCh38: 6:75918938-75918938
9 MYO6 NM_004999.4(MYO6):c.*4446A>G SNV Uncertain significance 908252 GRCh37: 6:76629175-76629175
GRCh38: 6:75919458-75919458
10 MYO6 NM_004999.4(MYO6):c.*4506T>C SNV Uncertain significance 908253 GRCh37: 6:76629235-76629235
GRCh38: 6:75919518-75919518
11 MYO6 NM_004999.4(MYO6):c.189T>G (p.Cys63Trp) SNV Uncertain significance 908721 GRCh37: 6:76538258-76538258
GRCh38: 6:75828541-75828541
12 MYO6 NM_004999.4(MYO6):c.406C>A (p.Arg136=) SNV Uncertain significance 908722 GRCh37: 6:76542573-76542573
GRCh38: 6:75832856-75832856
13 MYO6 NM_004999.4(MYO6):c.1029C>T (p.Gly343=) SNV Uncertain significance 908783 GRCh37: 6:76558199-76558199
GRCh38: 6:75848482-75848482
14 MYO6 NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr) SNV Uncertain significance 908784 GRCh37: 6:76558219-76558219
GRCh38: 6:75848502-75848502
15 MYO6 NM_004999.4(MYO6):c.2359T>C (p.Trp787Arg) SNV Uncertain significance 908844 GRCh37: 6:76591478-76591478
GRCh38: 6:75881761-75881761
16 MYO6 NM_004999.4(MYO6):c.2462A>G (p.Gln821Arg) SNV Uncertain significance 908845 GRCh37: 6:76595766-76595766
GRCh38: 6:75886049-75886049
17 MYO6 NM_004999.4(MYO6):c.*186A>G SNV Uncertain significance 908966 GRCh37: 6:76624915-76624915
GRCh38: 6:75915198-75915198
18 MYO6 NM_004999.4(MYO6):c.*263T>C SNV Uncertain significance 908967 GRCh37: 6:76624992-76624992
GRCh38: 6:75915275-75915275
19 MYO6 NM_004999.4(MYO6):c.*301G>A SNV Uncertain significance 908968 GRCh37: 6:76625030-76625030
GRCh38: 6:75915313-75915313
20 MYO6 NM_004999.4(MYO6):c.*1011T>A SNV Uncertain significance 909028 GRCh37: 6:76625740-76625740
GRCh38: 6:75916023-75916023
21 MYO6 NM_004999.4(MYO6):c.*1889A>G SNV Uncertain significance 909090 GRCh37: 6:76626618-76626618
GRCh38: 6:75916901-75916901
22 MYO6 NM_004999.4(MYO6):c.438T>C (p.Ser146=) SNV Uncertain significance 909577 GRCh37: 6:76542605-76542605
GRCh38: 6:75832888-75832888
23 MYO6 NM_004999.4(MYO6):c.553+10A>G SNV Uncertain significance 909578 GRCh37: 6:76545683-76545683
GRCh38: 6:75835966-75835966
24 MYO6 NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) SNV Uncertain significance 45144 rs55662069 GRCh37: 6:76596587-76596587
GRCh38: 6:75886870-75886870
25 MYO6 NM_004999.4(MYO6):c.2595C>T (p.Pro865=) SNV Uncertain significance 178474 rs150876010 GRCh37: 6:76596648-76596648
GRCh38: 6:75886931-75886931
26 MYO6 NM_004999.4(MYO6):c.2659T>A (p.Ser887Thr) SNV Uncertain significance 909699 GRCh37: 6:76599774-76599774
GRCh38: 6:75890057-75890057
27 MYO6 NM_004999.4(MYO6):c.3439+13G>T SNV Uncertain significance 909765 GRCh37: 6:76621428-76621428
GRCh38: 6:75911711-75911711
28 MYO6 NM_004999.4(MYO6):c.3483G>A (p.Glu1161=) SNV Uncertain significance 909766 GRCh37: 6:76623823-76623823
GRCh38: 6:75914106-75914106
29 MYO6 NM_004999.4(MYO6):c.3515G>A (p.Arg1172His) SNV Uncertain significance 909767 GRCh37: 6:76623855-76623855
GRCh38: 6:75914138-75914138
30 MYO6 NM_004999.4(MYO6):c.3538G>A (p.Asp1180Asn) SNV Uncertain significance 909768 GRCh37: 6:76623878-76623878
GRCh38: 6:75914161-75914161
31 MYO6 NM_004999.4(MYO6):c.*303A>G SNV Uncertain significance 909840 GRCh37: 6:76625032-76625032
GRCh38: 6:75915315-75915315
32 MYO6 NM_004999.4(MYO6):c.*305T>C SNV Uncertain significance 909841 GRCh37: 6:76625034-76625034
GRCh38: 6:75915317-75915317
33 MYO6 NM_004999.4(MYO6):c.*1287T>A SNV Uncertain significance 909888 GRCh37: 6:76626016-76626016
GRCh38: 6:75916299-75916299
34 MYO6 NM_004999.4(MYO6):c.*1324A>G SNV Uncertain significance 909889 GRCh37: 6:76626053-76626053
GRCh38: 6:75916336-75916336
35 MYO6 NM_004999.4(MYO6):c.*1925A>G SNV Uncertain significance 909942 GRCh37: 6:76626654-76626654
GRCh38: 6:75916937-75916937
36 MYO6 NM_004999.4(MYO6):c.*2146A>C SNV Uncertain significance 909943 GRCh37: 6:76626875-76626875
GRCh38: 6:75917158-75917158
37 MYO6 NM_004999.4(MYO6):c.*2976C>T SNV Uncertain significance 910004 GRCh37: 6:76627705-76627705
GRCh38: 6:75917988-75917988
38 MYO6 NM_004999.4(MYO6):c.*3032C>T SNV Uncertain significance 910005 GRCh37: 6:76627761-76627761
GRCh38: 6:75918044-75918044
39 MYO6 NM_004999.4(MYO6):c.*3549C>T SNV Uncertain significance 910063 GRCh37: 6:76628278-76628278
GRCh38: 6:75918561-75918561
40 MYO6 NM_004999.4(MYO6):c.*3660C>T SNV Uncertain significance 910064 GRCh37: 6:76628389-76628389
GRCh38: 6:75918672-75918672
41 MYO6 NM_004999.4(MYO6):c.*3824A>C SNV Uncertain significance 910065 GRCh37: 6:76628553-76628553
GRCh38: 6:75918836-75918836
42 MYO6 NM_004999.4(MYO6):c.*4030G>A SNV Uncertain significance 910127 GRCh37: 6:76628759-76628759
GRCh38: 6:75919042-75919042
43 MYO6 NM_004999.4(MYO6):c.*4032G>A SNV Uncertain significance 910128 GRCh37: 6:76628761-76628761
GRCh38: 6:75919044-75919044
44 MYO6 NM_004999.4(MYO6):c.*4056G>A SNV Uncertain significance 910129 GRCh37: 6:76628785-76628785
GRCh38: 6:75919068-75919068
45 MYO6 NM_004999.4(MYO6):c.600C>T (p.Asn200=) SNV Uncertain significance 45166 rs145665265 GRCh37: 6:76550348-76550348
GRCh38: 6:75840631-75840631
46 MYO6 NM_004999.4(MYO6):c.1224-4A>G SNV Uncertain significance 45136 rs144031818 GRCh37: 6:76566810-76566810
GRCh38: 6:75857093-75857093
47 MYO6 NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg) SNV Uncertain significance 45158 rs61734891 GRCh37: 6:76623903-76623903
GRCh38: 6:75914186-75914186
48 MYO6 NM_004999.4(MYO6):c.3597A>G (p.Gly1199=) SNV Uncertain significance 910675 GRCh37: 6:76623937-76623937
GRCh38: 6:75914220-75914220
49 MYO6 NM_004999.4(MYO6):c.3659-10A>G SNV Uncertain significance 910676 GRCh37: 6:76624520-76624520
GRCh38: 6:75914803-75914803
50 MYO6 NM_004999.4(MYO6):c.*401A>G SNV Uncertain significance 910739 GRCh37: 6:76625130-76625130
GRCh38: 6:75915413-75915413

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 37:

72
# Symbol AA change Variation ID SNP ID
1 MYO6 p.Glu216Val VAR_016209 rs121912559

Expression for Deafness, Autosomal Recessive 37

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 37.

Pathways for Deafness, Autosomal Recessive 37

Pathways related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
2
Show member pathways
13.09 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
3
Show member pathways
12.99 PTPRQ MYO7A MYO6 MYO3A MYO1B MYO1A
4
Show member pathways
12.8 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
5
Show member pathways
12.59 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
6
Show member pathways
12.53 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
7
Show member pathways
12.38 MYO6 MYO1B MYO1A MYH14
8
Show member pathways
11.88 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
9 10.71 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A

GO Terms for Deafness, Autosomal Recessive 37

Cellular components related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.19 TRIOBP RGS19 MYO7A MYO6 MYO3A MYO1B
2 vesicle GO:0031982 9.77 MYO7A MYO6 MYO1B MYO1A MYO15A
3 microvillus GO:0005902 9.71 MYO7A MYO6 MYO1B MYO1A
4 filopodium GO:0030175 9.63 MYO6 MYO3A MYO1B
5 brush border GO:0005903 9.62 RGS19 MYO1B MYO1A MYH14
6 filamentous actin GO:0031941 9.61 MYO6 MYO3A MYO1A
7 stereocilium GO:0032420 9.56 TPRN MYO7A MYO3A MYO15A
8 stereocilium bundle GO:0032421 9.48 PTPRQ MYO15A
9 actin cytoskeleton GO:0015629 9.43 TRIOBP MYO7A MYO6 MYO1B MYO1A MYO15A
10 stereocilium base GO:0120044 9.33 TRIOBP TPRN MYO7A
11 myosin complex GO:0016459 9.17 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A

Biological processes related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.63 TRIOBP MYO7A MYO6 MYO1B MYO1A MYO15A
2 inner ear morphogenesis GO:0042472 9.62 PTPRQ MYO7A MYO6 MYO15A
3 actin filament-based movement GO:0030048 9.56 MYO7A MYO6 MYO1B MYH14
4 auditory receptor cell stereocilium organization GO:0060088 9.54 TRIOBP TPRN MYO7A
5 inner ear auditory receptor cell differentiation GO:0042491 9.4 MYO7A MYO6
6 vesicle transport along actin filament GO:0030050 9.35 MYO7A MYO6 MYO1B MYO1A MYO15A
7 sensory perception of sound GO:0007605 9.23 TRIOBP TPRN MYO7A MYO6 MYO3A MYO1A

Molecular functions related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
2 ATP binding GO:0005524 9.98 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
3 actin binding GO:0003779 9.92 TRIOBP MYO7A MYO6 MYO3A MYO1B MYO1A
4 actin filament binding GO:0051015 9.91 TRIOBP MYO7A MYO6 MYO1B MYO1A MYO15A
5 calmodulin binding GO:0005516 9.8 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
6 motor activity GO:0003774 9.7 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
7 ADP binding GO:0043531 9.58 MYO7A MYO6 MYO3A
8 actin-dependent ATPase activity GO:0030898 9.5 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A
9 microfilament motor activity GO:0000146 9.17 MYO7A MYO6 MYO3A MYO1B MYO1A MYO15A

Sources for Deafness, Autosomal Recessive 37

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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